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Variant (rsID / SNP)

rs139945437

MUSK

rs139945437 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MUSK. Location: chromosome 9, position 113,530,241. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MUSKBenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
9:113530241
Cytoband
9q31.3
HGVS
NM_005592.4(MUSK):c.1062G>A (p.Thr354=)
Allele change
Synonymous_T354T

Associated conditions / phenotypes

Congenital myasthenic syndrome 9|Fetal akinesia deformation sequence 1|Congenital myasthenic syndrome 9

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.